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Dokumenttyp:
journal article 
Autor(en):
Kopajtich, Robert; Nicholls, Thomas J; Rorbach, Joanna; Metodiev, Metodi D; Freisinger, Peter; Mandel, Hanna; Vanlander, Arnaud; Ghezzi, Daniele; Carrozzo, Rosalba; Taylor, Robert W; Marquard, Klaus; Murayama, Kei; Wieland, Thomas; Schwarzmayr, Thomas; Mayr, Johannes A; Pearce, Sarah F; Powell, Christopher A; Saada, Ann; Ohtake, Akira; Invernizzi, Federica; Lamantea, Eleonora; Sommerville, Ewen W; Pyle, Angela; Chinnery, Patrick F; Crushell, Ellen; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yos...    »
 
Titel:
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 
Abstract:
Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused by either mutations in the mtDNA or mutations in nuclear genes coding for mitochondrial proteins. The underlying pathomechanisms can affect numerous pathways involved in mitochondrial physiology. By whole-exome and candidate gene sequencing, we identified 11 individuals from 9 families carrying compoun...    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2014 
Band / Volume:
95 
Heft / Issue:
Seitenangaben Beitrag:
708-20 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Institut für Humangenetik